Published in Genome Res on April 10, 2006
Mouse segmental duplication and copy number variation. Nat Genet (2008) 4.24
Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution. PLoS Genet (2009) 2.07
Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res (2007) 2.02
Comparative analysis of Alu repeats in primate genomes. Genome Res (2009) 1.85
Adaptive evolution of young gene duplicates in mammals. Genome Res (2009) 1.82
Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes. Genome Biol (2009) 1.71
The origins and impact of primate segmental duplications. Trends Genet (2009) 1.69
Explaining human uniqueness: genome interactions with environment, behaviour and culture. Nat Rev Genet (2008) 1.67
Fast-evolving noncoding sequences in the human genome. Genome Biol (2007) 1.64
Accelerated rate of gene gain and loss in primates. Genetics (2007) 1.62
Palindromic gene amplification--an evolutionarily conserved role for DNA inverted repeats in the genome. Nat Rev Cancer (2009) 1.62
Detection and correction of false segmental duplications caused by genome mis-assembly. Genome Biol (2010) 1.54
Reduced purifying selection prevails over positive selection in human copy number variant evolution. Genome Res (2008) 1.54
Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A (2006) 1.47
Definition, conservation and epigenetics of housekeeping and tissue-enriched genes. BMC Genomics (2009) 1.30
Molecular mechanisms of chromosomal rearrangement during primate evolution. Chromosome Res (2008) 1.22
DupMasker: a tool for annotating primate segmental duplications. Genome Res (2008) 1.16
Segmental duplications and evolutionary plasticity at tumor chromosome break-prone regions. Genome Res (2008) 1.16
Exploring the role of copy number variants in human adaptation. Trends Genet (2012) 1.14
A recurrent inversion on the eutherian X chromosome. Proc Natl Acad Sci U S A (2007) 1.08
Minimal effect of ectopic gene conversion among recent duplicates in four mammalian genomes. Genetics (2009) 1.08
Segmental duplications contribute to gene expression differences between humans and chimpanzees. Genetics (2009) 1.06
Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biol (2008) 1.04
Human gene copy number variation and infectious disease. Hum Genet (2014) 0.97
Increased de novo copy number variants in the offspring of older males. Transl Psychiatry (2011) 0.92
On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees. Genome Biol (2007) 0.92
Development of the first marmoset-specific DNA microarray (EUMAMA): a new genetic tool for large-scale expression profiling in a non-human primate. BMC Genomics (2007) 0.89
Noncoding sequences near duplicated genes evolve rapidly. Genome Biol Evol (2010) 0.88
Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications. Mol Biol Evol (2010) 0.88
Evolutionary dynamism of the primate LRRC37 gene family. Genome Res (2012) 0.85
Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions. Genome Res (2008) 0.85
Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7. BMC Genomics (2014) 0.84
Repair-mediated duplication by capture of proximal chromosomal DNA has shaped vertebrate genome evolution. PLoS Genet (2009) 0.84
A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications. Breast Cancer Res (2012) 0.84
Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids. PLoS One (2009) 0.84
Tandem repeats modify the structure of human genes hosted in segmental duplications. Genome Biol (2009) 0.84
Identification and characterization of lineage-specific highly conserved noncoding sequences in Mammalian genomes. Genome Biol Evol (2012) 0.82
Regulatory element copy number differences shape primate expression profiles. Proc Natl Acad Sci U S A (2012) 0.81
Variation in DNA substitution rates among lineages erroneously inferred from simulated clock-like data. PLoS One (2010) 0.80
Primate-specific spliced PMCHL RNAs are non-protein coding in human and macaque tissues. BMC Evol Biol (2008) 0.79
The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements. BMC Genomics (2008) 0.77
Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids. BMC Evol Biol (2008) 0.77
Genomic structure and evolution of multigene families: "flowers" on the human genome. Int J Evol Biol (2012) 0.76
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein. BMC Genet (2013) 0.76
Transcriptional variations mediated by an alternative promoter of the FPR3 gene. Mamm Genome (2011) 0.75
A simple method for estimating evolutionary rates of base substitutions through comparative studies of nucleotide sequences. J Mol Evol (1980) 113.75
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Finishing the euchromatic sequence of the human genome. Nature (2004) 41.40
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Recent segmental duplications in the human genome. Science (2002) 21.30
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature (2003) 12.44
Segmental duplications: organization and impact within the current human genome project assembly. Genome Res (2001) 11.77
Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature (2001) 10.96
Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. Am J Hum Genet (2001) 9.35
Shotgun sequence assembly and recent segmental duplications within the human genome. Nature (2004) 7.91
Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08
A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature (2005) 5.51
Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps. Science (2005) 5.47
An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet (2003) 5.33
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol (2003) 4.32
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature (2005) 4.30
Segmental duplications and the evolution of the primate genome. Nat Rev Genet (2002) 4.16
Positive selection of a gene family during the emergence of humans and African apes. Nature (2001) 3.68
The molecular clock runs more slowly in man than in apes and monkeys. Nature (1987) 3.42
The genomic record of Humankind's evolutionary roots. Am J Hum Genet (1999) 3.40
Testing models of selection and demography in Drosophila simulans. Genetics (2002) 3.37
Hotspots of mammalian chromosomal evolution. Genome Biol (2004) 2.92
The structure and evolution of centromeric transition regions within the human genome. Nature (2004) 2.78
Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. Genome Res (2003) 2.07
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum Mol Genet (2003) 2.07
Analysis of segmental duplications and genome assembly in the mouse. Genome Res (2004) 1.89
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res (2004) 1.78
Patterns of segmental duplication in the human genome. Mol Biol Evol (2004) 1.76
Recent segmental and gene duplications in the mouse genome. Genome Biol (2003) 1.74
Recent segmental duplications in the working draft assembly of the brown Norway rat. Genome Res (2004) 1.72
Evolutionary impact of human Alu repetitive elements. Curr Opin Genet Dev (2004) 1.68
The Tre2 (USP6) oncogene is a hominoid-specific gene. Proc Natl Acad Sci U S A (2003) 1.62
Evolutionary constraints in conserved nongenic sequences of mammals. Genome Res (2005) 1.50
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med (2001) 1.49
Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation. Genome Res (2003) 1.04
Gene conversion homogenizes the CMT1A paralogous repeats. BMC Genomics (2001) 0.99
Evidence for widespread reticulate evolution within human duplicons. Am J Hum Genet (2005) 0.98
Comparative mapping of the region of human chromosome 7 deleted in williams syndrome. Genome Res (1999) 0.97
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. Genome Res (2005) 0.95
Conservation of pericentromeric duplications of a 200-kb part of the human 21q22.1 region in primates. Cytogenet Cell Genet (1998) 0.90
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res (2004) 24.52
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
Recent segmental duplications in the human genome. Science (2002) 21.30
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
A vision for the future of genomics research. Nature (2003) 14.06
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Prepublication data sharing. Nature (2009) 12.24
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007) 10.38
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Identification and characterization of multi-species conserved sequences. Genome Res (2003) 10.18
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Limitations of next-generation genome sequence assembly. Nat Methods (2010) 9.04
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing. Science (2011) 7.92
Shotgun sequence assembly and recent segmental duplications within the human genome. Nature (2004) 7.91
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
End-sequence profiling: sequence-based analysis of aberrant genomes. Proc Natl Acad Sci U S A (2003) 7.70
A diversity profile of the human skin microbiota. Genome Res (2008) 7.65
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet (2011) 7.31
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90
The genome of a songbird. Nature (2010) 5.90
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Genome analysis of the platypus reveals unique signatures of evolution. Nature (2008) 5.74
A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature (2005) 5.51
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods (2010) 5.44
Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus. Nature (2013) 5.35
An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet (2003) 5.33
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet (2006) 5.25
Modernizing reference genome assemblies. PLoS Biol (2011) 5.23
A physical map of the mouse genome. Nature (2002) 4.97
MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences. Nucleic Acids Res (2003) 4.97
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Initial sequence and comparative analysis of the cat genome. Genome Res (2007) 4.67
LINE-1 retrotransposition activity in human genomes. Cell (2010) 4.60
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Completing the map of human genetic variation. Nature (2007) 4.38